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ARIC Publications

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Journal Article
Folsom AR, Cushman M, Tsai MY, Heckbert SR, Aleksic N. "Prospective study of the G20210A polymorphism in the prothrombin gene, plasma prothrombin concentration, and incidence of venous thromboembolism." Am J Hematol. 2002;71(4):285-90.
Folsom AR, Tang W, George KM, Heckbert SR, Maclehose RF, Cushman M. "Prospective study of γ' fibrinogen and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE)." Thromb Res. 2016;139:44-9.
Muallem H, North KE, Kakoki M, et al. "Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study." Hum Genet. 2007;121(3-4):421-31.
Reis JP, Michos ED, Selvin E, Pankow JS. "Race, vitamin D-binding protein gene polymorphisms, 25-hydroxyvitamin D, and incident diabetes: the Atherosclerosis Risk in Communities (ARIC) Study." Am J Clin Nutr. 2015;101(6):1232-40.
Huffman JE, de Vries PS, Morrison AC, et al. "Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF." Blood. 2015;126(11):e19-29.
Kapoor A, Bakshy K, Xu L, et al. "Rare coding TTN variants are associated with electrocardiographic QT interval in the general population." Sci Rep. 2016;6:28356.
Sims R, van der Lee SJ, Naj AC, et al. "Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease." Nat Genet. 2017;49(9):1373-1384.
Loomis SJ, Köttgen A, Li M, et al. "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study." Sci Rep. 2019;9(1):5941.
Reich D, Nalls MA, Kao LWH, et al. "Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene." PLoS Genet. 2009;5(1):e1000360.
Lutsey PL, Rasmussen-Torvik LJ, Pankow JS, et al. "Relation of lipid gene scores to longitudinal trends in lipid levels and incidence of abnormal lipid levels among individuals of European ancestry: the Atherosclerosis Risk in Communities (ARIC) study." Circ Cardiovasc Genet. 2012;5(1):73-80.
Zewinger S, Kleber ME, Tragante V, et al. "Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study." Lancet Diabetes Endocrinol. 2017;5(7):534-543.
Kantor DB, Palmer CD, Young TR, et al. "Replication and fine mapping of asthma-associated loci in individuals of African ancestry." Hum Genet. 2013;132(9):1039-47.
Folsom AR, Tang W, Weng L-C, Roetker NS, Cushman M, Basu S. "Replication of a genetic risk score for venous thromboembolism in whites but not in African Americans." J Thromb Haemost. 2016;14(1):83-8.
Carty CL, Spencer KL, Setiawan VW, et al. "Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study." Hum Reprod. 2013;28(6):1695-706.
Tang W, Saratzis A, Pattee J, et al. "Replication of Newly Identified Genetic Associations Between Abdominal Aortic Aneurysm and SMYD2, LINC00540, PCIF1/MMP9/ZNF335, and ERG." Eur J Vasc Endovasc Surg. 2020;59(1):92-97.
He C, Chasman DI, Dreyfus J, et al. "Reproductive aging-associated common genetic variants and the risk of breast cancer." Breast Cancer Res. 2012;14(2):R54.
Jansen H, Willenborg C, Lieb W, et al. "Rheumatoid Arthritis and Coronary Artery Disease: Genetic Analyses Do Not Support a Causal Relation." J Rheumatol. 2017;44(1):4-10.
Bressler J, Kao LWH, Pankow JS, Boerwinkle E. "Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study." PLoS One. 2010;5(5):e10521.
Wei P, Cao Y, Zhang Y, Xu Z, Kwak I-Y, Boerwinkle E. "On Robust Association Testing for Quantitative Traits and Rare Variants." G3 (Bethesda). 2016;6(12):3941-3950.
Bressler J, Franceschini N, Demerath EW, Mosley TH, Folsom AR. "Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study." BMC Med Genet. 2015;16:52.
Liu C-T, Young KL, Brody JA, et al. "Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):344-9.
Feofanova EV, Yu B, Metcalf GA, et al. "Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study." Genetics. 2018;209(2):607-616.
Bis JC, White CC, Franceschini N, et al. "Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):359-64.
Taliun D, Harris DN, Kessler MD, et al. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program." Nature. 2021;590(7845):290-299.
Magnani JW, Brody JA, Prins BP, et al. "Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium." Circ Cardiovasc Genet. 2014;7(3):365-73.
Rooney MR, Pankow JS, Sibley SD, Selvin E, Reis JP, Michos ED. "Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study." Am J Clin Nutr. 2016;104(4):1023-1029.
Larsson SC, Traylor M, Burgess S, Boncoraglio GB, Jern C, Michaëlsson K. "Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study." Neurology. 2019;92(9):e944-e950.
Prudente S, Copetti M, Morini E, et al. "The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry." Nutr Metab Cardiovasc Dis. 2013;23(11):1043-9.
Dastani Z, Johnson T, Kronenberg F, Nelson CP, Assimes TL, März W. "The shared allelic architecture of adiponectin levels and coronary artery disease." Atherosclerosis. 2013;229(1):145-8.
Dichgans M, Malik R, König IR, et al. "Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants." Stroke. 2014;45(1):24-36.
Morrison AC, Bare LA, Luke MM, et al. "Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study." Cerebrovasc Dis. 2008;26(4):420-4.
Deo RC, Wilson JG, Xing C, et al. "Single-nucleotide polymorphisms in LPA explain most of the ancestry-specific variation in Lp(a) levels in African Americans." PLoS One. 2011;6(1):e14581.
Liang J, Le TH, Edwards DRVelez, et al. "Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations." PLoS Genet. 2017;13(5):e1006728.
Demirkan A, Lahti J, Direk N, et al. "Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies." Psychol Med. 2016;46(8):1613-23.
Volcik KA, Ballantyne CM, Coresh J, Folsom AR, Boerwinkle E. "Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: the Atherosclerosis Risk in Communities (ARIC) study." Atherosclerosis. 2007;195(1):e76-82.
Wu B. "Statistical methods for association tests of multiple continuous traits in genome-wide association studies." Ann Hum Genet. 2015;79(4):282-93.
Lin H, Wang M, Brody JA, et al. "Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):335-43.
Perry JRB, Voight BF, Yengo L, et al. "Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases." PLoS Genet. 2012;8(5):e1002741.
Davies G, Lam M, Harris SE, et al. "Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function." Nat Commun. 2018;9(1):2098.
Roetker NS, Armasu SM, Pankow JS, et al. "Taller height as a risk factor for venous thromboembolism: a Mendelian randomization meta-analysis." J Thromb Haemost. 2017;15(7):1334-1343.
Tin A, Marten J, Kuhns VLHalperin, et al. "Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels." Nat Genet. 2019;51(10):1459-1474.
Lin H, Sinner MF, Brody JA, et al. "Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study." Heart Rhythm. 2014;11(3):452-7.
de Haan HG, A Vlieg vanHylckama, Lotta LA, et al. "Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes." J Thromb Haemost. 2018;16(12):2432-2441.
Bielinski SJ, Pankow JS, Folsom AR, North KE, Boerwinkle E. "TCF7L2 single nucleotide polymorphisms, cardiovascular disease and all-cause mortality: the Atherosclerosis Risk in Communities (ARIC) study." Diabetologia. 2008;51(6):968-70.
Köttgen A, Hwang S-J, Rampersaud E, et al. "TCF7L2 variants associate with CKD progression and renal function in population-based cohorts." J Am Soc Nephrol. 2008;19(10):1989-99.
Kanoni S, Nettleton JA, Hivert M-F, et al. "Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis." Diabetes. 2011;60(9):2407-16.
Gong J, Nishimura KK, Fernández-Rhodes L, et al. "Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI." Int J Obes (Lond). 2018;42(3):384-390.
Hong J, Hatchell KE, Bradfield JP, et al. "Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations." J Clin Endocrinol Metab. 2018;103(4):1380-1392.
Bien SA, Pankow JS, Haessler J, et al. "Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium." Diabetologia. 2017;60(12):2384-2398.
Morris AP, Le TH, Wu H, et al. "Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies." Nat Commun. 2019;10(1):29.
Liu C-T, Raghavan S, Maruthur N, et al. "Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin." Am J Hum Genet. 2016;99(1):56-75.
Keller MF, Reiner AP, Okada Y, et al. "Trans-ethnic meta-analysis of white blood cell phenotypes." Hum Mol Genet. 2014;23(25):6944-60.
C Y Ng M, Saxena R, Li J, et al. "Transferability and fine mapping of type 2 diabetes loci in African Americans: the Candidate Gene Association Resource Plus Study." Diabetes. 2013;62(3):965-76.
Liu C-T, C Y Ng M, Rybin D, et al. "Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource." Diabetologia. 2012;55(11):2970-84.
Voight BF, Scott LJ, Steinthorsdottir V, et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010;42(7):579-89.
Verweij N, Mateo Leach I, Isaacs A, et al. "Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram." Hum Mol Genet. 2016;25(10):2093-2103.
Chiang CWK, Liu C-T, Lettre G, et al. "Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms." Genetics. 2012;192(1):253-66.
Yee SWah, Stecula A, Chien H-C, et al. "Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies." PLoS Genet. 2019;15(9):e1008208.
McAdams-Demarco MA, Maynard JW, Baer AN, Kao LW, Köttgen A. "A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study." Ann Rheum Dis. 2013;72(5):701-6.
McMahon GM, Hwang S-J, Clish CB, et al. "Urinary metabolites along with common and rare genetic variations are associated with incident chronic kidney disease." Kidney Int. 2017;91(6):1426-1435.
Köttgen A, Hwang S-J, Larson MG, et al. "Uromodulin levels associate with a common UMOD variant and risk for incident CKD." J Am Soc Nephrol. 2010;21(2):337-44.
Ray D, Pankow JS. "USAT: A Unified Score-Based Association Test for Multiple Phenotype-Genotype Analysis." Genet Epidemiol. 2016;40(1):20-34.
Pendergrass SA, Brown-Gentry K, Dudek SM, et al. "The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery." Genet Epidemiol. 2011;35(5):410-22.
Shungin D, Cornelis MC, Divaris K, et al. "Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium." Int J Epidemiol. 2015;44(2):638-50.
Tin A, Colantuoni E, Boerwinkle E, et al. "Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate." J Hum Genet. 2013;58(7):461-6.
Lusk CM, Dyson G, Clark AG, et al. "Validated context-dependent associations of coronary heart disease risk with genotype variation in the chromosome 9p21 region: the Atherosclerosis Risk in Communities study." Hum Genet. 2014;133(9):1105-16.
Shetty PB, Tang H, Feng T, et al. "Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families." Circ Cardiovasc Genet. 2015;8(1):106-13.
Benjamin EJ, Rice KM, Arking DE, et al. "Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry." Nat Genet. 2009;41(8):879-81.
Folsom AR, Pankow JS, Peacock JM, Bielinski SJ, Heiss G, Boerwinkle E. "Variation in TCF7L2 and increased risk of colon cancer: the Atherosclerosis Risk in Communities (ARIC) Study." Diabetes Care. 2008;31(5):905-9.
Schneider ALC, Lutsey PL, Selvin E, et al. "Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study." Eur J Neurol. 2015;22(8):1220-7.
Simino J, Wang Z, Bressler J, et al. "Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study." PLoS One. 2017;12(7):e0180046.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
Yu B, de Vries PS, Metcalf GA, et al. "Whole genome sequence analysis of serum amino acid levels." Genome Biol. 2016;17(1):237.
Lange LA, Hu Y, Zhang H, et al. "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet. 2014;94(2):233-45.
de Vries PS, Yu B, Feofanova EV, et al. "Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study." Hum Mol Genet. 2017;26(17):3442-3450.

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